Canonical Allele Identifier: CA389034588
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2984187
ClinVar RCV Id: RCV003843346
dbSNP Id: rs1396486231
gnomAD v3: 14-23413815-T-C
gnomAD v4: 14-23413815-T-C
MyVariant Identifiers: chr14:g.23883024T>C (hg19) chr14:g.23413815T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413815T>C , CM000676.2:g.23413815T>C GRCh38
NC_000014.8:g.23883024T>C , CM000676.1:g.23883024T>C GRCh37
NC_000014.7:g.22952864T>C NCBI36
NG_007884.1:g.26847A>G , LRG_384:g.26847A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5734A>G MANE Select ENSP00000347507.3:p.Ile1912Val
ENST00000355349.3:c.5734A>G ENSP00000347507.3:p.Ile1912Val
NM_000257.3:c.5734A>G NP_000248.2:p.Ile1912Val
XM_017021340.1:c.5734A>G XP_016876829.1:p.Ile1912Val
NM_000257.4:c.5734A>G MANE Select NP_000248.2:p.Ile1912Val
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